Studies Focus on Common Conditions, Personal Environmental Exposures

Bethesda, Md., Tues., Sept. 4, 2007 - The National Institutes of Health (NIH) has selected the first projects to be funded as part of the Genes, Environment and Health Initiative (GEI), a unique collaboration between geneticists and environmental scientists.

"This is ground-breaking research in understanding the complex factors that contribute to health and disease," said Department of Health and Human Services Secretary Mike Leavitt. "Researchers have long known that our genes, our environmental exposures and our own behavioral choices all have an influence on our health. This new initiative will use innovative genomic tools as well as new instruments for measuring environmental factors - from diet and physical activity to stress and substance addiction - in order to begin sorting out how these different factors affect a person's risk for a number of health conditions."

Secretary Leavitt first launched the GEI initiative in February 2006 as a proposal in the President's budget for fiscal year 2007. The funding announced today is for the first research grants under the new initiative. They are part of a broader effort across HHS agencies to build on recent advances in genomic science and medicine, including the Secretary's Initiative on Personalized Health Care. NIH received $40 million in new funding as part of its fiscal year (FY) 2007 budget to support GEI. NIH institutes already planned to spend some $28 million in FY 2007 on the kinds of studies GEI will conduct. And finally, two institutes chose to add a total of $9 million in additional funding for targeted studies under the Genes, Environment and Health Initiative.

To identify the genetic risks, researchers will use the rapidly evolving technologies used in genome-wide association studies to focus on common conditions, such as tooth decay, heart disease, cancer and diabetes. This genetic component of GEI uses a strategy which relies on the newfound ability to swiftly identify genetic differences throughout the genome between people with an illness and those who are healthy, leading to an understanding of the underlying genetic contribution to the disease. The environmental component will begin by developing new technologies that accurately measure personal exposures with small, wearable sensors that can be used to assess environmental agents. The final component of the research strategy is to determine whether the effect of genetic variants that increase disease risk is different in the presence of environmental exposures. In the first year, NIH will fund eight genome-wide association studies, two genotyping centers, a coordinating center and more than 30 environmental technology projects.

"Genome-wide association studies have proven themselves to be powerful tools for discovering the genetic contributions to common diseases," said Elias A. Zerhouni, M.D., director of the NIH, which is part of HHS. "Early findings from such studies have identified new genetic variants associated with a higher risk of common diseases such as prostate cancer, diabetes and heart disease, but researchers have only scratched the surface. The genetic studies being funded today will identify many novel genetic variants associated with an increased risk for these health conditions."

The genome-wide association studies will be led by the National Human Genome Research Institute (NHGRI), part of NIH. First-year funding for the studies was contributed by all NIH institutes and centers, including an extra investment by NIH's National Institute of Dental and Craniofacial Research (NIDCR).

The principal investigators, approximate funding levels and health condition to be focused on are:

Jeffrey Murray, M.D., University of Iowa, Iowa City
Genome-wide Association Studies of Prematurity and Its Complications
$488,000

"In the past, hunting for the genes causing any disease has been a long and arduous task, but the biomedical tools and technologies now available to researchers are breathtaking," said Francis S. Collins, M.D., Ph.D., NHGRI director and co-chair of the NIH coordinating committee for GEI. "These tools will enhance how we predict, diagnose and ultimately design personalized prevention and treatments for our patients."

In addition to the genome-wide association studies, two genotyping facilities and a coordinating center have also received funding for GEI. An additional estimated $9 million of GEI funds will be committed to the genotyping centers in September once late-breaking scientific opportunities are identified and prioritized, to process additional samples which will provide even greater power and accuracy to the genome-wide association studies. All genome-wide association elements of GEI are being awarded as cooperative agreements.

Data from the genome-wide association studies will be deposited in the database of Genotypes and Phenotypes (dbGaP), at the National Center for Biotechnology Information, a part of the National Library of Medicine at NIH, which will manage the vast amount of genetic, medical and environmental information that emerges from GEI. To encourage rapid research advances, and in keeping with the principles pioneered by the Human Genome Project, all data generated through these initiatives will be made available to researchers, consistent with NIH's data-sharing policy for NIH-supported, genome-wide association studies, which is available on NIH's Office of Extramural Research Genome-Wide Association Studies Web page.

For researchers who want to view genome-wide association data produced by GEI, dbGaP offers two levels of access. The first is open-access, which means the information will be available without restriction on the Internet, and the second is controlled-access, which requires preauthorization for the individual researcher seeking to view it. The open-access section will allow users to view study documents, such as protocols, questionnaires and summaries of genotype and phenotype data. The second is the controlled-access portion of the database, which allows approved researchers to download individual-level genotype and phenotype data from which the study participants' personal identifiers, such as names, have been removed.

The Exposure Biology Program, which makes up the other component of GEI, is being coordinated primarily by the National Institute of Environmental Health Sciences (NIEHS), in partnership with the National Cancer Institute (NCI), the National Heart, Lung and Blood Institute (NHLBI), and the National Institute on Drug Abuse (NIDA), all of which are part of NIH. This program will support interdisciplinary teams of basic scientists, bioengineers, physician-scientists and others working to: 1) develop environmental sensors for measuring toxins, dietary intake, physical activity, psychosocial stress and addictive substances; 2) identify biomarkers in the human body that indicate activation of disease mechanisms such as oxidative stress, inflammation and DNA damage; and 3) integrate sensor and biomarker technologies so that they can be applied to genome-wide association studies to better understand gene-environment interactions.

"Common human diseases such as cancer and diabetes result from a complex interplay between genes and environmental risk factors," said Brenda Weis, Ph.D., NIEHS senior science advisor. "The goal of this program is to develop the technology to better understand how environmental exposures affect disease risk."

Cooperative agreements totaling approximately $19 million, including an additional commitment of $5.6 million from NIEHS, have been awarded to 34 investigators to develop these exciting new technologies. The principal investigators, project titles and approximate total funding levels are listed below in five areas of emphasis:

NIEHS, a component of the National Institutes of Health, supports research to understand the effects of the environment on human health. For more information on environmental health topics, visit www.niehs.nih.gov.

NHGRI is one of 27 institutes and centers at the NIH, an agency of the Department of Health and Human Services. The NHGRI Division of Extramural Research supports grants for research and for training and career development at sites nationwide. Additional information about NHGRI can be found at its Web site, www.genome.gov.

The National Institute of Dental and Craniofacial Research is the nation's leading funder of research on oral, dental and craniofacial health. Additional information about NIDCR can be found at its Web site, www.nidcr.nih.gov.

The National Institutes of Health (NIH) -"The Nation's Medical Research Agency" - includes 27 Institutes and Centers and is a component of the U. S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.